Cholesteryl ester storage disease: Case report during childhood

Akcoren Z., Gogus S., Kocak N., Gurakan F., Ozen H., Yuce A.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, cilt.2, sa.6, ss.574-576, 1999 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 2 Sayı: 6
  • Basım Tarihi: 1999
  • Doi Numarası: 10.1007/s100249900164
  • Dergi Adı: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.574-576
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3 1/2-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid Lipase activity in leukocytes.